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NNPDF Presentations on Cyclodextrin in NPC Disease

NNPDF August 2nd, 2013 Presentations on Cyclodextrin in NPC Disease

(Audio & Visual Presentations are found below introduction)

On August 2nd, 2013 in Baltimore MD, the National Niemann-Pick Disease Foundation (NNPDF) hosted a morning session on the use of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) as an experimental treatment of Niemann-Pick Type C (NPC) disease during its 21st Annual Family Support and Medical Conference .

This session was attended by approximately 220 individuals, comprised of Niemann-Pick Disease Type C (NPC) families from around the world, researchers, and medical clinicians, representatives from the United States Food and Drug Administration (FDA), National Institutes of Health (NIH), as well as, corporate and pharmaceutical representatives. In many ways, the session was a milestone for the NPC community. This session marked a true coming together of the NPC community along with our partners at the NIH, FDA, Therapeutics for Rare and Neglected Diseases (TRND), NeuroNEXT, Johnson and Johnson (J&J) and the numerous Niemann-Pick Disease (NPD) patient advocacy foundations that have all contributed to the cyclodextrin story.

The National Niemann-Pick Disease Foundation would like to offer a special note of thanks and gratitude to each of the individuals who participated in and assisted with the design of this extraordinary presentation. Each participant brought a unique perspective and a particular degree of expertise and understanding associated with the Niemann-Pick Disease community and clinical trial experience, unlike anything that we have seen in the past.

We would particularly like to recognize the diligent efforts of Dr. Dan Ory, the NNPDF’s Scientific Advisory Board Chair. Dr. Ory assisted in developing the meeting agenda and worked to ensure that each aspect of the cyclodextrin story was well represented. In addition, there were many individuals working behind the scenes to assist with the foundation’s efforts to make certain that this presentation would be available to the entire NPC community on-line. We offer a special note of thanks to Jonathan Jacoby, Becky McGuire and Nicole Yanjanin for their guidance and assistance.

Lastly, the NNPDF would like to extend a sincere note of thanks and appreciation to Hugh Hempel, for his time, talent and meticulous efforts associated with the video recording and uploading onto a website of this project.

Note: For a full historical time-line, reports and Press Release Announcements on the cyclodextrin story, please refer to the National Niemann-Pick Disease Foundation Web Site “Cyclodextrin” page for more detailed information.



2013 NNPDF Session on Cyclodextrin in NPC Disease:

Welcome: Karen Quandt, NNPDF Board Co-Chair ~ Biography

Moderator: Marc Patterson, M.D., FRACP, NNPDF Scientific Advisory Board Member ~ Biography

Panel: Patient perspectives on Cyclodextrin


NPC parents’ experiences: waiting, hoping, parenting, advocating, innovating, etc:

1. US parent with trial eligible child (Darrile Papier)
1a. Biography
2. US parent with trial ineligible child (Karen Quandt)
2a. Biography
3. US Parent already treating under I-IND (Hugh Hempel)
3a. Biography
4. European Parent (Sabine Fornfiest)
5. US parent of three children who died from NPC (Cindy Parseghian)
5a. Biography


FDA Presentation:

Drug Development in Rare Diseases: the Regulatory Path to Approval

6. Andrew Mulberg, M.D.
6a. Biography
6b. Powerpoint

For those interested in learning more about participating in NPD clinical trials, visit the Experimental Therapies page.

  • Breaking it down: How the NPC-Cyclodextrin process has unfolded


A series of mini-presentations referring to elements of the FDA presentation, including both progress made and challenges confronted

  • Therapeutics for Rare and Neglected Diseases (TRND) and the Phase 1 Trial

7. John McKew, Ph.D.
     7a. Biography
     7b. Powerpoint

8. Denny Porter, M.D., Ph.D. 

     8a. Biography           

  • Individual – Investigational New Drug (i-IND) Application

9. Dr. Caroline Hastings
9a. Powerpoint

10. Patricia Dickson, M.D.
     10a. Biography

     10a. Powerpoint

  • NeuroNEXT and Cyclodextrin Clinical Trial Phase 2/3

11. Elizabeth McNeil, M.D. MSc
     11a. Biography

     11b. Powerpoint

  • Managing Cyclodextrin Supplies for Single Patient Investigational New Drug (i-IND) Applications

12. Steve Silber, M.D.
12a. Biography

     12b. Powerpoint

  • Cyclodextrin therapy for NPC1 disease ~ Panel Session Discussion
      • ModeratorDaniel Ory, M.D.; NNPDF SAB Chair; (Biography) – (Power Point)
      • What this means for NPC patients/parents; one slide that provides a overview of the process and clear places where everyone can see where they fit in.
      • (Included in Panel Session Part-I)

Q&A with panel comprised of:

13. Click HERE for PART I of the Panel

14. Click HERE for PART II of the Panel

14a. Closing summary: Dan Ory (included in Panel Session Part 2)

14b. Acknowledgement of Dr. Mark Kao (Johnson & JohnsonJ) Contributions: Karen   Quandt, NNPDF Co-Chair   (included in Panel Session Part 2)

Aug 2nd, 2013 Panel Discussion Participants (from left); Dr. Andrew Mulberg (FDA);  Dr. Elizabeth McNeil (NeuroNEXT), Dr. Steven Silber (J&J), Dr. Caroline Hastings (CHORI), Dr. Patti Dickson (UCLA), Dr. Forbes “Denny” Porter (NIH), Dr. John McKew (NIH/TRND), Dr. Sara Goldkind (FDA), Dr. Dan Ory (NNPDF SAB), Dr. Marc Patterson (NNPDF SAB)


Saturday – Additional Sessions

Charles H. Vite, DVM, PhD
Powerpoint (with videos)




2013 NNPDF Session Videos

1. Darrile Papier
NPC Parent

2. Karen Quandt
NPC Parent

3. Hugh Hempel
NPC Parent

4. Sabine Fornfiest
NPC Parent Europe

5. Cindy Parseghian
Ara Parseghian Medical Research Foundation

6. Dr. Andrew Mulberg
Food and Drug Administration (FDA)

7. Dr. John McKew
National Institutes of Health (NIH)- TRND Team

8. Dr. Forbes “Denny” Porter
National Institutes of Health (NIH)

9. Caroline Hastings
Children’s Hospital Oakland Research Institute (CHORI)

10. Dr. Patti Dickson
University of California, Los Angeles (UCLA)

11. Dr. Elizabeth McNeil

12. Dr. Steven Silber
Johnson & Johnson

13. Panel Discussion: Part 1

14. Panel Discussion: Part 2

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